Canonical Allele Identifier: CA1667372182

Gene: CITED2

Linked Data

• dbSNP Id: rs1778283515
• gnomAD v3: 6-139373048-GAT-G
• gnomAD v4: 6-139373048-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373050_139373051del , CM000668.2:g.139373050_139373051del	GRCh38
NC_000006.11:g.139694187_139694188del , CM000668.1:g.139694187_139694188del	GRCh37
NC_000006.10:g.139735880_139735881del	NCBI36
NG_016169.1:g.6599_6600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*82_*83del MANE Select	ENSP00000356623.2:n.*82_*83del
ENST00000367651.3:c.*82_*83del	ENSP00000356623.2:n.*82_*83del
ENST00000536159.2:c.*82_*83del	ENSP00000442831.1:n.*82_*83del
ENST00000537332.2:c.*82_*83del	ENSP00000444198.2:n.*82_*83del
NM_001168388.2:c.*82_*83del	NP_001161860.1:n.*82_*83del
NM_001168389.2:c.*82_*83del	NP_001161861.2:n.*82_*83del
NM_006079.4:c.*82_*83del	NP_006070.2:n.*82_*83del
NM_006079.5:c.*82_*83del MANE Select	NP_006070.2:n.*82_*83del
NM_001168388.3:c.*82_*83del	NP_001161860.1:n.*82_*83del
NM_001168389.3:c.*82_*83del	NP_001161861.2:n.*82_*83del